Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245769 | SCV000314024 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000986766 | SCV000630384 | benign | Welander distal myopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986766 | SCV001135883 | likely benign | Welander distal myopathy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001573472 | SCV002504297 | likely benign | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ce |
RCV001573472 | SCV002822661 | benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | TIA1: BS1, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV001573472 | SCV001799398 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000245769 | SCV001974552 | benign | not specified | no assertion criteria provided | clinical testing |